About: Young–Simpson syndrome

Facets (new session)
Description
Metadata
Settings
- Rule:
- Inverse Functional Properties:
- "Same As":

About: Young–Simpson syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)
QRcode icon

http://dbpedia.demo.openlinksw.com/describe/?url=http%3A%2F%2Fdbpedia.org%2Fresource%2FYoung%E2%80%93Simpson_syndrome&invfp=IFP_OFF&sas=SAME_AS_OFF

Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation.

Attributes	Values
rdf:type	Thing Disease yago:WikicatCongenitalDisorders yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisordersWithOMIMButNoGene disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Young–Simpson syndrome (en)
rdfs:comment	Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. (en)
foaf:name	Young–Simpson syndrome (en)
name	Young–Simpson syndrome (en)
foaf:depiction
dcterms:subject	Congenital disorders Rare diseases Syndromes Genetic disorders with OMIM but no gene
Wikipage page ID	12034538 (xsd:integer)
Wikipage revision ID	1090226847 (xsd:integer)
Link from a Wikipage to another Wikipage	Hypothyroidism Cryptorchidism Macular degeneration Torticollis Congenital disorders Rare diseases Hypotonia Syndromes Genetic disorders with OMIM but no gene Mental retardation Face Congenital abnormality Dysmorphism Heart defects Growth retardation Postnatal dbr:Ohdo_Blepharophimosis_syndrome
sameAs	Young–Simpson syndrome Young–Simpson syndrome Young–Simpson syndrome Young–Simpson syndrome
SNOMED CT	699298009 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Genetic-disorder-stub dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Redirect dbt:Reflist dbt:Small
thumbnail	wiki-commons:Special:FilePath/Autosomal_dominant_-_en.svg?width=300
ICD	Q87.8 (en)
OMIM	603736 (xsd:integer)
Orphanet	3047 (xsd:integer)
caption	This condition is inherited via autosomal dominant manner (en)
synonyms	Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson syndrome (en)
has abstract	Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart defects, facial dysmorphism, cryptorchidism in males, hypotonia, mental retardation, and postnatal growth retardation. Other symptoms include transient hypothyroidism, macular degeneration, and torticollis. The condition was discovered in 1987 and the name arose from the individuals who first reported the syndrome. An individual withYSS has been identified with having symptoms to a similar syndrome known as , showing that it is quite difficult to diagnose the correct condition based on the symptoms present. Some doctors therefore consider these syndromes to be the same. (en)
gold:hypernym	Disorder
dbp:wordnet_type	http://www.w3.org/2006/03/wn/wn20/instances/synset-disease-noun-1
prov:wasDerivedFrom	wikipedia-en:Young–Simpson_syndrome?oldid=1090226847&ns=0
page length (characters) of wiki page	10247 (xsd:nonNegativeInteger)
ICD10	Q87.8
OMIM id	603736 (xsd:integer)
ORPHA	3047
foaf:isPrimaryTopicOf	wikipedia-en:Young–Simpson_syndrome
is Link from a Wikipage to another Wikipage of	List of abbreviations for diseases and disorders Ciliopathy KAT6B YSS List of syndromes Young-Simpson syndrome Young Simpson syndrome
is Wikipage redirect of	YSS Young-Simpson syndrome Young Simpson syndrome
is foaf:primaryTopic of	wikipedia-en:Young–Simpson_syndrome

Faceted Search & Find service v1.17_git139 as of Feb 29 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 08.03.3330 as of Mar 19 2024, on Linux (x86_64-generic-linux-glibc212), Single-Server Edition (378 GB total memory, 60 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software